Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis

Journal of Human Genetics

Volumn 61, Issue 12, 2016, Pages 977-984

  Straniero, Letizia ^a   Soldà, Giulia ^b,c   Costantino, Lucy ^d   Seia, Manuela ^d   Melotti, Paola ^e   Colombo, Carla ^d   Asselta, Rosanna ^b,c   Duga, Stefano ^b,c  

^a UNIVERSITY OF MILAN   (Italy)

^b HUMANITAS UNIVERSITY   (Italy)

^c HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^e UNIVERSITY HOSPITAL OF VERONA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EPITHELIAL SODIUM CHANNEL; SCNN1B PROTEIN, HUMAN;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; EXON; GENE DELETION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTRON; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; POINT MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS; WILD TYPE; FEMALE; GENE ORDER; GENETIC TRANSCRIPTION; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; MALE; MUTATION;

ALLELES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EPITHELIAL SODIUM CHANNELS; FEMALE; GENE ORDER; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTRONS; MALE; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE DELETION; TRANSCRIPTION, GENETIC;

EID: 85006516124     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2016.101     Document Type: Article

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